HPS6
Sign in to saveAlso known as BLOC2S3, HPS6, biogenesis of lysosomal organelles complex 2 subunit 3, HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 gene.
Gene data
HPS6- Name
- HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
- Type
- protein-coding
- Position
- 102,065,349–102,068,036 (+)
- Aliases
- BLOC2S3
- Ensembl
- ENSG00000166189
- RefSeq RNA
- NM_024747.6
- RefSeq protein
- NP_079023.2
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
- Symbol
- HPS6
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:102,065,349-102,068,036
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Hermansky–Pudlak syndrome 6 (HPS6), also known as ruby-eye protein homolog (Ru), is a protein that in humans is encoded by the HPS6 gene.
== Function == This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).
Excerpted from Wikipedia’s “HPS6” article, available under the CC BY-SA 4.0 licence.